Puschett J B, Greenberg A, Mitro R, Piraino B, Wallia R
Department of Medicine, University of Pittsburgh School of Medicine, PA.
Nephron. 1988;50(3):205-11. doi: 10.1159/000185159.
A 19-year-old normotensive patient had all of the clinical features of Bartter's syndrome: hypokalemia, elevated renin and aldosterone levels and increased excretion of prostaglandin E. In contrast to the patients described by Bartter, the patient had a normal capacity to form solute-free water, suggesting intact loop of Henle function. Baseline potassium and chloride excretion rates were higher than those observed in 5 normal subjects, but the response to intravenous chlorothiazide, a drug which acts in the early distal convolute tubule, was abnormal. While chloride excretion rose by only 61% in this patient, it increased sixfold in the normal subjects. Sodium excretion quadrupled in the controls but less than doubled in this patients. Roughly equivalent increments in potassium excretion occurred in normals and controls, suggesting that the patient's distal potassium-secretory mechanism was intact. Review of the literature indicates that whether the site of the abnormal renal tubular potassium (chloride) leak is the proximal tubule, the loop of Henle or the distal convoluted tubule, patients may achieve features indistinguishable from those previously reported as characteristic for Bartter's syndrome. If loop of Henle malfunction is required to diagnose classical Bartter's syndrome, then our patient (and several reported elsewhere) has a variant form.
一名19岁血压正常的患者具备巴特综合征的所有临床特征：低钾血症、肾素和醛固酮水平升高以及前列腺素E排泄增加。与巴特所描述的患者不同，该患者具有正常的生成无溶质水的能力，提示髓袢功能完好。基础钾和氯排泄率高于5名正常受试者的观察值，但对作用于远曲小管起始段的静脉注射氯噻嗪的反应异常。该患者的氯排泄仅增加61%，而正常受试者增加了六倍。对照组钠排泄增加四倍，而该患者增加不到两倍。正常人和该患者的钾排泄增量大致相当，提示该患者远曲小管钾分泌机制完好。文献回顾表明，无论肾小管钾（氯）异常泄漏部位是近端小管、髓袢还是远曲小管，患者都可能出现与先前报道的巴特综合征特征难以区分的表现。如果诊断经典巴特综合征需要髓袢功能障碍，那么我们的患者（以及其他地方报道的一些患者）患有变异型。
